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In Alagille's syndrome, also known as "Alagille disease," is an abnormality of the bile ducts causes chronic cholestasis, which means less bile is produced and passed from the liver to the intestine. When bile cannot drain out of the liver, it accumulates and causes liver damage. Severe liver damage can lead to cirrhosis, or scarring of the liver.
This liver disorder is generally inherited from only one parent. Siblings of a child with Alagille's syndrome have a one in 30 chance of developing it if neither parent has any symptoms; this rises to one in 10 if one parent has signs of the syndrome. Alagille's syndrome occurs approximately once in every 100,000 live births, with boys and girls affected in equal numbers.
Alagille's syndrome symptoms can range from mild to severe; a person with Alagille's syndrome may have all or only a few of these symptoms:
Alagille's syndrome can be difficult to diagnose, especially in infants, because its symptoms are very similar to those of other forms of liver disease. However, other features associated with Alagille's syndrome can help doctors figure out the problem. The blood vessel that connects the heart to the lungs is often narrow, which leads to extra heart sounds but is usually not harmful in itself. The bones in the spinal column may be shaped abnormally, but almost never cause problems with function of the nerves in the spinal cord.
A diagnosis of Alagille's syndrome is usually confirmed through blood tests, ultrasound, and liver biopsy. A nuclear scan can determine how much bile (if any) is flowing from the liver. In a few cases, surgery is performed to examine the liver and bile ducts.
There is no cure for Alagille's syndrome, but the symptoms can usually be managed without surgery. The main goal is to avoid complications of the disease.
Because of their reduced bile flow, people with Alagille's syndrome are at risk of developing fat soluble vitamin deficiency. Supplementing fat soluble vitamins (A,D,E,K) helps patients digest fat so they can get enough nutrition.
Itching can be minimized with medications.
Surgery is only indicated if:
Learn about other Liver Disease States.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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